Variant report

Variant	rs55681357
Chromosome Location	chr11:45687366-45687367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr11:45687203-45687709	ECC-1	luminal epithelium:	n/a	chr11:45687215-45687222
2	ZBTB7A	chr11:45687159-45687665	ECC-1	luminal epithelium:	n/a	chr11:45687215-45687222
3	POLR2A	chr11:45686727-45687559	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:45687319-45687369	K562	blood:	n/a
2	chr11:45687319-45687369	AoSMC	blood vessel:	n/a
3	chr11:45687319-45687369	SK-N-MC	brain:	n/a
4	chr11:45687319-45687369	HUVEC	blood vessel:	n/a
5	chr11:45687319-45687369	NH-A	brain:	n/a
6	chr11:45687319-45687369	BE2_C	brain:	n/a
7	chr11:45687319-45687369	GM19239	blood:	n/a
8	chr11:45687319-45687369	CMK	blood:	n/a
9	chr11:45687319-45687369	GM06990	blood:	n/a
10	chr11:45687319-45687369	Hepatocyte	liver:	n/a
11	chr11:45687319-45687369	ECC-1	luminal epithelium:	n/a
12	chr11:45687319-45687369	SK-N-SH_RA	brain:	n/a
13	chr11:45687319-45687369	HCF	heart:	n/a
14	chr11:45687319-45687369	HMEC	breast:	n/a
15	chr11:45687319-45687369	HNPCEpiC	eye:	n/a
16	chr11:45687319-45687369	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:45687319-45687369	AG10803	skin:	n/a
18	chr11:45687319-45687369	HRPEpiC	eye:	n/a
19	chr11:45687319-45687369	HCPEpiC	choroid plexus:	n/a
20	chr11:45687319-45687369	SK-N-SH	brain:	n/a
21	chr11:45687319-45687369	HIPEpiC	eye:	n/a
22	chr11:45687319-45687369	NHBE	bronchial:	n/a
23	chr11:45687319-45687369	SKMC	muscle:	n/a
24	chr11:45687319-45687369	A549	lung:	n/a
25	chr11:45687319-45687369	NT2-D1	testis:	n/a
26	chr11:45687319-45687369	RPTEC	kidney:	n/a
27	chr11:45687319-45687369	U87	brain:	n/a
28	chr11:45687319-45687369	HCT-116	colon:	n/a
29	chr11:45687319-45687369	ovcar-3	ovarian:	n/a
30	chr11:45687319-45687369	NB4	blood:	n/a
31	chr11:45687319-45687369	HEEpiC	esophagus:	n/a
32	chr11:45687319-45687369	T-47D	breast:	n/a
33	chr11:45687319-45687369	HRE	kidney:	n/a
34	chr11:45687319-45687369	HEK293	kidney:	embryo
35	chr11:45687319-45687369	GM12878	blood:	n/a
36	chr11:45687319-45687369	NHDF-neo	bronchial:	n/a
37	chr11:45687319-45687369	AG09319	gingival:	n/a
38	chr11:45687319-45687369	AG09309	skin:	n/a
39	chr11:45687319-45687369	IMR90	lung:	fetal
40	chr11:45687319-45687369	HAEpiC	amniotic membrane:	n/a
41	chr11:45687319-45687369	AG04449	skin:	fetal
42	chr11:45687319-45687369	LNCaP	prostate:	n/a
43	chr11:45687319-45687369	SAEC	small airway:	n/a
44	chr11:45687319-45687369	HRCEpiC	kidney:	n/a
45	chr11:45687319-45687369	Caco-2	colon:	n/a
46	chr11:45687319-45687369	H1-hESC	embryonic stem cell:	embryo
47	chr11:45687319-45687369	BJ	skin:	n/a
48	chr11:45687319-45687369	MCF10A-Er-Src	breast:	n/a
49	chr11:45687319-45687369	PANC-1	pancreas:	n/a
50	chr11:45687319-45687369	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
CHST1	TF binding region
CHST1	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10769160	0.99[ASN][1000 genomes]
rs1078720	0.88[ASN][1000 genomes]
rs11038608	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12804655	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34264431	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36106594	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148893	0.99[ASN][1000 genomes]
rs4148894	0.99[ASN][1000 genomes]
rs4148897	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4148900	0.82[EUR][1000 genomes]
rs45486999	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45604433	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7121696	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750398	0.88[ASN][1000 genomes]
rs895729	0.99[ASN][1000 genomes]
rs895734	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv467870	chr11:45684557-45757401	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv554199	chr11:45684557-45757401	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	esv19367	chr11:45685695-45687403	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv3333567	chr11:45685776-45688474	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45680000-45688000	Enhancers	Fetal Brain Male	brain
2	chr11:45685600-45687600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:45685600-45687800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:45685800-45687600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:45685800-45687600	Active TSS	Aorta	Aorta
6	chr11:45685800-45687600	Active TSS	Brain Cingulate Gyrus	brain
7	chr11:45685800-45688000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:45686000-45687400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr11:45686000-45687600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:45686000-45687600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr11:45686000-45687800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:45686000-45687800	Bivalent/Poised TSS	A549	lung
13	chr11:45686200-45687400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
14	chr11:45686200-45687400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:45686200-45687400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:45686200-45687400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:45686200-45687400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:45686200-45687400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:45686200-45687400	Active TSS	Left Ventricle	heart
20	chr11:45686200-45687400	Active TSS	Ovary	ovary
21	chr11:45686200-45687400	Active TSS	Osteobl	bone
22	chr11:45686200-45687600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr11:45686200-45687600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:45686200-45687600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:45686200-45687600	Active TSS	Brain Angular Gyrus	brain
26	chr11:45686200-45687600	Bivalent/Poised TSS	HepG2	liver
27	chr11:45686200-45687800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:45686200-45688200	Active TSS	Fetal Brain Female	brain
29	chr11:45686400-45687400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:45686400-45687400	Active TSS	Brain Hippocampus Middle	brain
31	chr11:45686400-45687400	Weak transcription	Fetal Heart	heart
32	chr11:45686400-45687400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr11:45686400-45687400	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr11:45686400-45687400	Active TSS	HUVEC	blood vessel
35	chr11:45686400-45687600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:45686400-45687600	Active TSS	Brain Anterior Caudate	brain
37	chr11:45686400-45687600	Active TSS	Colon Smooth Muscle	Colon
38	chr11:45686400-45687600	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:45686600-45687400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:45686600-45687400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:45686600-45687400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:45686600-45687400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr11:45686600-45687400	Active TSS	Fetal Muscle Trunk	muscle
44	chr11:45686600-45687400	Active TSS	Fetal Muscle Leg	muscle
45	chr11:45686600-45687400	Active TSS	Lung	lung
46	chr11:45686600-45687400	Bivalent/Poised TSS	Dnd41	blood
47	chr11:45686600-45687600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr11:45686600-45687600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:45686600-45687600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:45686600-45687600	Active TSS	Psoas Muscle	Psoas

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